Article
Genetics and molecular biology of haemophilias A and B.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Aug 1991
Green P M, Montandon A J, Bentley D R, Giannelli F
Abstract excerpt
The development of rapid procedures for the characterization of mutations is advancing the knowledge of the molecular biology of the haemophilias and transforming the strategies for the diagnoses required for genetic counselling. In haemophilia B more than 300 mutants have been fully characterized. These comprise complete and partial deletions, rare insertions, and 'point' mutations. The latter may impair...
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